X-linked recessive Charcot-Marie-Tooth disease and Cx32 gene mutation

Objective To study the Cx32 gene mutation in a X linked recessive Charcot Marie Tooth disease (CMTXR) family.Methods Mutation analysis of Cx32 was screened by polymerase chain reaction single strand conformation polymorphism (PCR SSCP) combined with DNA direct sequencing in 4 patients, 9 unaffected family members and 50 unrelated normal individuals.Results Arg15Gln mutation was found in 4 patients and 3 unaffected family members.Conclusion The mutation of Cx32 can also cause CMTXR. Using PCR SSCP combined with DNA direct sequencing can make gene diagnosis to CMTXR that is caused by Cx32 mutation.